Patient's Query
Hello doctor,
I am a 42-year-old, and I was recently diagnosed with early-stage breast cancer. My oncologist mentioned cancer genome testing to guide treatment.
What does this involve, and can it help me avoid unnecessary chemotherapy?
Should my daughter also consider genetic screening?
Kindly help.
Hello,
Welcome to icliniq.com.
I read your query and understand your concern.
You have been diagnosed with early-stage breast carcinoma, which has a good prognosis when compared to advanced or metastatic breast carcinoma. I would like to know the status of any lymph node involvement, hormone receptors like ER, PR, and HER2/neu, which also take part in its management and prognosis. Kindly provide those if you have done them. There are genetic tests that help you reduce the risk of those cancers.
Management of early-stage breast cancer after knowing the status of lymph nodes and receptors is breast-conserving surgery with radiation or mastectomy with adjuvant or neoadjuvant chemotherapy.
BRCA 1 and BRCA 2 identify inherited mutations that increase the risk of having breast and ovarian cancer. BRCA 1 (breast cancer gene) is associated with a 50 to 85 percent lifetime risk of developing breast cancer and up to 40 percent risk of ovarian cancer. The breast cancer in BRCA1 is triple-negative breast cancer (TNBC).
BRCA2 is associated with up to a 50 to 60 percent life risk of developing breast cancer and 20 percent ovarian cancer. It is also associated with cancers of the prostate, colon, gall bladder, bile duct, stomach, and pancreas.
I will recommend that you undergo a few genetic tests. You should also consider getting genetic testing for your daughter.
An ultrasound of the bilateral breast should be done; self-breast examination will be helpful to be aware of any change in breast size, any lump, nipple retraction.
The guidelines are that women aged over 35 or 40 years should undergo a screening mammogram of the bilateral breast yearly up to 75 years.
In case the BRCA genes become positive, then the recommendation is to offer bilateral risk-reducing mastectomy with immediate breast reconstruction. This reduces the risk of breast cancer by 90 percent.
Chemoprophylaxis with Tamoxifen or Anastrozole (hormonal) may reduce risk by 50 percent. Premenopausal women may be offered bilateral salpingo-oophorectomy after they have completed their family, around 30 to 40 years of age.
I hope this helps you.
Thank you.
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Answered byDr. Mohamed Abdirahman Ali
Medically reviewed byiCliniq medical review team
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